October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
110 citations
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August 2004 in “British Journal of Dermatology” The ventral matrix is the main source of the nail plate.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
10 citations
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November 1997 in “British Journal of Dermatology” A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
2 citations
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May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
70 citations
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December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
October 2024 in “Frontiers in Oncology” Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
24 citations
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September 2019 in “Experimental cell research” BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
14 citations
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April 2013 in “Journal of dermatological science” Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
2 citations
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August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
February 2024 in “Journal of Investigative Dermatology” Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
April 2020 in “International Journal of Cosmetic Science” The study found that minor protein differences between curved and straight Japanese hair are unlikely to significantly affect hair structure.
99 citations
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February 2000 in “PubMed” Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
42 citations
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July 2015 in “PLoS ONE” The study revealed the detailed structure of a keratin dimer, aiding understanding of how intermediate filament proteins function.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
1 citations
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January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.
10 citations
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February 2019 in “Journal of cellular physiology” TGF-β2 helps yak hair follicles enter the regression phase, while HSP70 tries to prevent it.
26 citations
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October 1999 in “Archives of Dermatology” Curly hair in certain scalp areas can be an early sign of hair loss.
20 citations
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February 2016 in “American Journal of Pathology” The genes OVOL1 and OVOL2 are important for hair growth and may be involved in a type of skin tumor.
33 citations
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July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
1 citations
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January 2023 in “The FASEB Journal” CircAGK affects cell death in hair cells by controlling the miR-3180-5p/BAX pathway, which can lead to hair loss.
27 citations
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September 1999 in “Journal of Investigative Dermatology” Human skin cells contain Protease Nexin-1, and male hormones can decrease its levels, potentially affecting hair growth.
6 citations
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December 2021 in “Scientific Reports” Inhibiting class I HDACs helps maintain hair growth ability in skin cells.
April 2016 in “Journal of Investigative Dermatology” Removing alkaline phosphatase from human skin cells hinders the creation of new hair follicles.